Incidental Mutation 'R8030:Specc1l'
| ID |
617903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Specc1l
|
| Ensembl Gene |
ENSMUSG00000033444 |
| Gene Name |
sperm antigen with calponin homology and coiled-coil domains 1-like |
| Synonyms |
9530057A13Rik, Specc1l, 4932439K10Rik, 4930470P14Rik, Cytsa |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.553)
|
| Stock # |
R8030 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75084389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 687
(M687K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040105]
[ENSMUST00000105421]
[ENSMUST00000218766]
[ENSMUST00000219387]
|
| AlphaFold |
Q2KN98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040105
AA Change: M704K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: M704K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
coiled coil region
|
412 |
467 |
N/A |
INTRINSIC |
|
coiled coil region
|
505 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1010 |
N/A |
INTRINSIC |
|
CH
|
1031 |
1129 |
1.52e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105421
AA Change: M704K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: M704K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
coiled coil region
|
238 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
|
coiled coil region
|
395 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
488 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
993 |
N/A |
INTRINSIC |
|
CH
|
1014 |
1112 |
1.52e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218766
AA Change: M687K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219387
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B09Rik |
A |
G |
9: 14,672,970 (GRCm39) |
S98P |
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,011,534 (GRCm39) |
V1170I |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,371,228 (GRCm39) |
T1786A |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,676,898 (GRCm39) |
I141T |
possibly damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,322,244 (GRCm39) |
V266A |
possibly damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,489,600 (GRCm39) |
I311F |
probably damaging |
Het |
| Armc2 |
T |
A |
10: 41,842,738 (GRCm39) |
N355I |
possibly damaging |
Het |
| Armh1 |
T |
A |
4: 117,087,184 (GRCm39) |
K160N |
probably benign |
Het |
| Asic1 |
A |
T |
15: 99,592,722 (GRCm39) |
T236S |
possibly damaging |
Het |
| Avl9 |
T |
A |
6: 56,718,407 (GRCm39) |
D424E |
probably damaging |
Het |
| Cbfa2t2 |
A |
T |
2: 154,357,816 (GRCm39) |
Q197L |
probably damaging |
Het |
| Ccdc136 |
T |
C |
6: 29,417,141 (GRCm39) |
V654A |
probably benign |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,259,787 (GRCm39) |
G2383V |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,588,386 (GRCm39) |
K182E |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,222,628 (GRCm39) |
S615T |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab14 |
A |
G |
4: 115,623,599 (GRCm39) |
Q390R |
probably benign |
Het |
| Eif4ebp2 |
G |
A |
10: 61,270,825 (GRCm39) |
A68V |
probably damaging |
Het |
| Fam81a |
A |
G |
9: 70,010,191 (GRCm39) |
S149P |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,095,839 (GRCm39) |
I193V |
possibly damaging |
Het |
| Flvcr2 |
T |
A |
12: 85,845,312 (GRCm39) |
V377D |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,946,756 (GRCm39) |
R185C |
possibly damaging |
Het |
| Gucy1b2 |
C |
T |
14: 62,630,319 (GRCm39) |
S809N |
probably benign |
Het |
| H60b |
T |
A |
10: 22,163,020 (GRCm39) |
N198K |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,689 (GRCm39) |
F643Y |
possibly damaging |
Het |
| Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,526,629 (GRCm39) |
V846A |
probably benign |
Het |
| Kirrel1 |
C |
A |
3: 87,005,082 (GRCm39) |
G89W |
probably damaging |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Mb21d2 |
A |
G |
16: 28,646,555 (GRCm39) |
F473S |
probably damaging |
Het |
| Mcrip2 |
G |
A |
17: 26,083,306 (GRCm39) |
Q111* |
probably null |
Het |
| Msh5 |
A |
G |
17: 35,248,724 (GRCm39) |
Y741H |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,135 (GRCm39) |
I544T |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,464,977 (GRCm39) |
E276G |
probably damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,565 (GRCm39) |
N233S |
probably benign |
Het |
| Nrip2 |
A |
T |
6: 128,383,484 (GRCm39) |
D124V |
possibly damaging |
Het |
| Or5al1 |
C |
T |
2: 85,990,586 (GRCm39) |
V43I |
probably benign |
Het |
| Or8k16 |
T |
A |
2: 85,520,063 (GRCm39) |
C97S |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,952,282 (GRCm39) |
A250S |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,208,964 (GRCm39) |
L149P |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,008,568 (GRCm39) |
I445F |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,116 (GRCm39) |
F33L |
probably damaging |
Het |
| Pkp2 |
A |
T |
16: 16,064,774 (GRCm39) |
M433L |
probably benign |
Het |
| Rbfox2 |
A |
G |
15: 76,969,776 (GRCm39) |
|
probably null |
Het |
| Rd3l |
A |
G |
12: 111,946,584 (GRCm39) |
L64P |
possibly damaging |
Het |
| Rnf220 |
A |
G |
4: 117,135,025 (GRCm39) |
Y409H |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,082,938 (GRCm39) |
T567A |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,587,371 (GRCm39) |
I477T |
probably damaging |
Het |
| Sltm |
C |
T |
9: 70,493,261 (GRCm39) |
R753* |
probably null |
Het |
| Spock3 |
T |
G |
8: 63,805,232 (GRCm39) |
C338G |
probably damaging |
Het |
| Ssh2 |
C |
A |
11: 77,345,332 (GRCm39) |
Q1106K |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,326,146 (GRCm39) |
M251V |
not run |
Het |
| Tdrd5 |
C |
A |
1: 156,098,165 (GRCm39) |
E711* |
probably null |
Het |
| Thop1 |
T |
C |
10: 80,911,450 (GRCm39) |
M112T |
possibly damaging |
Het |
| Tln1 |
C |
T |
4: 43,535,737 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
C |
5: 111,433,922 (GRCm39) |
I2319L |
possibly damaging |
Het |
| Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
| Txndc8 |
T |
C |
4: 57,984,178 (GRCm39) |
E151G |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,855 (GRCm39) |
E533G |
probably damaging |
Het |
| Zscan4f |
A |
G |
7: 11,135,290 (GRCm39) |
H232R |
probably benign |
Het |
|
| Other mutations in Specc1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Specc1l
|
APN |
10 |
75,082,055 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01638:Specc1l
|
APN |
10 |
75,082,039 (GRCm39) |
nonsense |
probably null |
|
|
IGL01970:Specc1l
|
APN |
10 |
75,081,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02539:Specc1l
|
APN |
10 |
75,103,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02737:Specc1l
|
APN |
10 |
75,082,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02941:Specc1l
|
APN |
10 |
75,077,022 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0305:Specc1l
|
UTSW |
10 |
75,081,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Specc1l
|
UTSW |
10 |
75,084,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0402:Specc1l
|
UTSW |
10 |
75,082,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Specc1l
|
UTSW |
10 |
75,082,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1508:Specc1l
|
UTSW |
10 |
75,143,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1861:Specc1l
|
UTSW |
10 |
75,145,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Specc1l
|
UTSW |
10 |
75,097,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Specc1l
|
UTSW |
10 |
75,081,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1930:Specc1l
|
UTSW |
10 |
75,145,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Specc1l
|
UTSW |
10 |
75,103,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2209:Specc1l
|
UTSW |
10 |
75,082,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Specc1l
|
UTSW |
10 |
75,081,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Specc1l
|
UTSW |
10 |
75,094,965 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4415:Specc1l
|
UTSW |
10 |
75,082,162 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4758:Specc1l
|
UTSW |
10 |
75,082,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5344:Specc1l
|
UTSW |
10 |
75,082,007 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5383:Specc1l
|
UTSW |
10 |
75,082,539 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5426:Specc1l
|
UTSW |
10 |
75,103,384 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5774:Specc1l
|
UTSW |
10 |
75,081,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Specc1l
|
UTSW |
10 |
75,112,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Specc1l
|
UTSW |
10 |
75,084,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Specc1l
|
UTSW |
10 |
75,084,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Specc1l
|
UTSW |
10 |
75,082,494 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6345:Specc1l
|
UTSW |
10 |
75,084,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6459:Specc1l
|
UTSW |
10 |
75,082,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6641:Specc1l
|
UTSW |
10 |
75,082,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Specc1l
|
UTSW |
10 |
75,082,113 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7100:Specc1l
|
UTSW |
10 |
75,081,329 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7475:Specc1l
|
UTSW |
10 |
75,082,281 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7545:Specc1l
|
UTSW |
10 |
75,080,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7615:Specc1l
|
UTSW |
10 |
75,099,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7635:Specc1l
|
UTSW |
10 |
75,112,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Specc1l
|
UTSW |
10 |
75,093,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Specc1l
|
UTSW |
10 |
75,081,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7711:Specc1l
|
UTSW |
10 |
75,066,642 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7742:Specc1l
|
UTSW |
10 |
75,082,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7847:Specc1l
|
UTSW |
10 |
75,145,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8015:Specc1l
|
UTSW |
10 |
75,076,902 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8882:Specc1l
|
UTSW |
10 |
75,065,689 (GRCm39) |
start codon destroyed |
unknown |
|
|
R9069:Specc1l
|
UTSW |
10 |
75,066,640 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9790:Specc1l
|
UTSW |
10 |
75,066,603 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9791:Specc1l
|
UTSW |
10 |
75,066,603 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0021:Specc1l
|
UTSW |
10 |
75,109,874 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGTCTGTCCGTAGCTG -3'
(R):5'- TTTTCACCACGGAGCACCAG -3'
Sequencing Primer
(F):5'- CCTCACTTCCATATCTAACGGTAAG -3'
(R):5'- ACCAGCACGCAGAGGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation